The Cerebellum

, Volume 11, Issue 4, pp 1037–1044

Cognitive Deficits in Machado–Joseph Disease Correlate with Hypoperfusion of Visual System Areas

Authors

    • Ataxia Unit, Department of Neurology and NeurosurgeryUniversidade Federal de São Paulo
    • Behavior Neurology Section, Department of Neurology and NeurosurgeryUniversidade Federal de São Paulo
  • Lívia Almeida Dutra
    • Ataxia Unit, Department of Neurology and NeurosurgeryUniversidade Federal de São Paulo
    • Behavior Neurology Section, Department of Neurology and NeurosurgeryUniversidade Federal de São Paulo
  • José Luiz Pedroso
    • Ataxia Unit, Department of Neurology and NeurosurgeryUniversidade Federal de São Paulo
  • André C. Felício
    • Ataxia Unit, Department of Neurology and NeurosurgeryUniversidade Federal de São Paulo
  • Helena Alessi
    • Behavior Neurology Section, Department of Neurology and NeurosurgeryUniversidade Federal de São Paulo
  • Ruth F. Santos-Galduroz
    • Center of Mathematics, Computer and Cognition–Universidade Federal do ABC, UFABC
    • Institute of Biosciences, UNESP
  • Paulo Henrique F. Bertolucci
    • Behavior Neurology Section, Department of Neurology and NeurosurgeryUniversidade Federal de São Paulo
  • Mário Luiz V. Castiglioni
    • Section of Nuclear Medicine, Department of RadiologyUniversidade Federal de São Paulo
  • Rodrigo Affonseca Bressan
    • Laboratório Interdisciplinar de Neurociências Clínicas (LiNC), Department of PsychiatryUniversidade Federal de São Paulo
  • Griselda Esther Jara de Garrido
    • Western Australian Centre for Health & Ageing, Centre for Medical ResearchUniversity of Western Australia
  • Orlando Graziani Povoas Barsottini
    • Ataxia Unit, Department of Neurology and NeurosurgeryUniversidade Federal de São Paulo
  • Andrea Jackowski
    • Laboratório Interdisciplinar de Neurociências Clínicas (LiNC), Department of PsychiatryUniversidade Federal de São Paulo
Original Paper

DOI: 10.1007/s12311-012-0354-x

Cite this article as:
Braga-Neto, P., Dutra, L.A., Pedroso, J.L. et al. Cerebellum (2012) 11: 1037. doi:10.1007/s12311-012-0354-x

Abstract

Cognitive and olfactory impairments have previously been demonstrated in patients with spinocerebellar ataxia type 3 (SCA3), also known as Machado–Joseph disease (MJD)—SCA3/MJD. We investigated changes in regional cerebral blood flow (rCBF) using single-photon emission computed tomography (SPECT) imaging in a cohort of Brazilian patients with SCA3/MJD. The aim of the present study was to evaluate the correlation among rCBF, cognitive deficits, and olfactory dysfunction in SCA3/MJD. Twenty-nine genetically confirmed SCA3/MJD patients and 25 control subjects were enrolled in the study. The severity of cerebellar symptoms was measured using the International Cooperative Ataxia Rating Scale and the Scale for the Assessment and Rating of Ataxia. Psychiatric symptoms were evaluated by the Hamilton Anxiety Scale and Beck Depression Inventory. The neuropsychological assessment consisted of Spatial Span, Symbol Search, Picture Completion, the Stroop Color Word Test, Trail Making Test (TMT), and Phonemic Verbal Fluency. Subjects were also submitted to odor identification evaluation using the 16-item Sniffin’ Sticks. SPECT was performed using ethyl cysteine dimer labeled with technetium-99m. SCA3/MJD patients showed reduced brain perfusion in the cerebellum, temporal, limbic, and occipital lobes compared to control subjects (pFDR <0.001). A significant positive correlation was found between the Picture Completion test and perfusion of the left parahippocampal gyrus and basal ganglia in the patient group as well as a negative correlation between the TMT part A and bilateral thalamus perfusion. The visuospatial system is affected in patients with SCA3/MJD and may be responsible for the cognitive deficits seen in this disease.

Keywords

Machado–Joseph disease Spinocerebellar ataxia type 3 Cognition Olfaction Cognitive deficits SPECT

Copyright information

© Springer Science+Business Media, LLC 2012